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Q9BVK2

- ALG8_HUMAN

UniProt

Q9BVK2 - ALG8_HUMAN

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Protein

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

Gene

ALG8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc(2)-PP-Dol By similarity.By similarity

Catalytic activityi

Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

Pathwayi

GO - Molecular functioni

  1. alpha-1,3-mannosyltransferase activity Source: UniProtKB

GO - Biological processi

  1. cellular protein metabolic process Source: Reactome
  2. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
  3. mannosylation Source: GOC
  4. post-translational protein modification Source: Reactome
  5. protein N-linked glycosylation Source: UniProtKB
  6. protein N-linked glycosylation via asparagine Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT57. Glycosyltransferase Family 57.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC:2.4.1.265)
Alternative name(s):
Asparagine-linked glycosylation protein 8 homolog
Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase
Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
Gene namesi
Name:ALG8
ORF Names:HUSSY-02
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:23161. ALG8.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471T → P in CDG1H. 1 Publication
VAR_023480
Natural varianti275 – 2751G → D in CDG1H. 1 Publication
VAR_023482

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

MIMi608104. phenotype.
Orphaneti79325. ALG8-CDG.
PharmGKBiPA134942124.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 526526Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferasePRO_0000174162Add
BLAST

Proteomic databases

MaxQBiQ9BVK2.
PaxDbiQ9BVK2.
PRIDEiQ9BVK2.

PTM databases

PhosphoSiteiQ9BVK2.

Expressioni

Gene expression databases

BgeeiQ9BVK2.
CleanExiHS_ALG8.
ExpressionAtlasiQ9BVK2. baseline and differential.
GenevestigatoriQ9BVK2.

Organism-specific databases

HPAiHPA051898.

Interactioni

Protein-protein interaction databases

BioGridi122511. 8 interactions.
IntActiQ9BVK2. 2 interactions.
STRINGi9606.ENSP00000299626.

Structurei

3D structure databases

ProteinModelPortaliQ9BVK2.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei4 – 2421HelicalSequence AnalysisAdd
BLAST
Transmembranei103 – 12220HelicalSequence AnalysisAdd
BLAST
Transmembranei143 – 16321HelicalSequence AnalysisAdd
BLAST
Transmembranei188 – 20821HelicalSequence AnalysisAdd
BLAST
Transmembranei238 – 25821HelicalSequence AnalysisAdd
BLAST
Transmembranei334 – 35421HelicalSequence AnalysisAdd
BLAST
Transmembranei368 – 38821HelicalSequence AnalysisAdd
BLAST
Transmembranei389 – 40921HelicalSequence AnalysisAdd
BLAST
Transmembranei427 – 44923HelicalSequence AnalysisAdd
BLAST
Transmembranei461 – 48121HelicalSequence AnalysisAdd
BLAST
Transmembranei488 – 50821HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG277067.
GeneTreeiENSGT00550000074967.
HOGENOMiHOG000168174.
HOVERGENiHBG024332.
InParanoidiQ9BVK2.
KOiK03849.
OMAiALTLCGY.
PhylomeDBiQ9BVK2.
TreeFamiTF315002.

Family and domain databases

InterProiIPR004856. Glyco_trans_ALG6/ALG8.
[Graphical view]
PANTHERiPTHR12413. PTHR12413. 1 hit.
PfamiPF03155. Alg6_Alg8. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BVK2-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL
60 70 80 90 100
PISQWYYEAT SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS
110 120 130 140 150
RTLLFQRFSV IFMDVLFVYA VRECCKCIDG KKVGKELTEK PKFILSVLLL
160 170 180 190 200
WNFGLLIVDH IHFQYNGFLF GLMLLSIARL FQKRHMEGAF LFAVLLHFKH
210 220 230 240 250
IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS LGLVVFLVSA
260 270 280 290 300
LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG
310 320 330 340 350
LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF
360 370 380 390 400
CLWFKPQGPR GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA
410 420 430 440 450
GDASIFLILT TTGHYSLFPL LFTAPELPIK ILLMLLFTIY SISSLKTLFR
460 470 480 490 500
KEKPLFNWME TFYLLGLGPL EVCCEFVFPF TSWKVKYPFI PLLLTSVYCA
510 520
VGITYAWFKL YVSVLIDSAI GKTKKQ
Length:526
Mass (Da):60,088
Last modified:April 3, 2007 - v2
Checksum:i71589A4EC09C3BE7
GO
Isoform 2 (identifier: Q9BVK2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     451-526: KEKPLFNWME...DSAIGKTKKQ → RSFTLVAQAGVQWHDLS

Note: No experimental confirmation available.

Show »
Length:467
Mass (Da):53,181
Checksum:iC790C4A6964929BF
GO

Sequence cautioni

The sequence CAA12176.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti478 – 4781F → Y in CAA12176. (PubMed:11124703)Curated
Sequence conflicti503 – 5031I → V in AAH01133. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471T → P in CDG1H. 1 Publication
VAR_023480
Natural varianti222 – 2221N → S.2 Publications
Corresponds to variant rs665278 [ dbSNP | Ensembl ].
VAR_023481
Natural varianti275 – 2751G → D in CDG1H. 1 Publication
VAR_023482
Natural varianti439 – 4391I → T.
Corresponds to variant rs17825668 [ dbSNP | Ensembl ].
VAR_031596

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei451 – 52676KEKPL…KTKKQ → RSFTLVAQAGVQWHDLS in isoform 2. CuratedVSP_046291Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ224875 mRNA. Translation: CAA12176.1. Different initiation.
AP002520 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW75050.1.
BC001133 mRNA. Translation: AAH01133.1.
CCDSiCCDS41692.1. [Q9BVK2-2]
CCDS8258.1. [Q9BVK2-1]
RefSeqiNP_001007028.1. NM_001007027.2. [Q9BVK2-2]
NP_076984.2. NM_024079.4. [Q9BVK2-1]
UniGeneiHs.503368.

Genome annotation databases

EnsembliENST00000299626; ENSP00000299626; ENSG00000159063. [Q9BVK2-1]
ENST00000376156; ENSP00000365326; ENSG00000159063. [Q9BVK2-2]
ENST00000615266; ENSP00000480742; ENSG00000159063. [Q9BVK2-2]
GeneIDi79053.
KEGGihsa:79053.
UCSCiuc001oyz.1. human.
uc001oza.1. human. [Q9BVK2-1]

Polymorphism databases

DMDMi143811361.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ224875 mRNA. Translation: CAA12176.1 . Different initiation.
AP002520 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW75050.1 .
BC001133 mRNA. Translation: AAH01133.1 .
CCDSi CCDS41692.1. [Q9BVK2-2 ]
CCDS8258.1. [Q9BVK2-1 ]
RefSeqi NP_001007028.1. NM_001007027.2. [Q9BVK2-2 ]
NP_076984.2. NM_024079.4. [Q9BVK2-1 ]
UniGenei Hs.503368.

3D structure databases

ProteinModelPortali Q9BVK2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122511. 8 interactions.
IntActi Q9BVK2. 2 interactions.
STRINGi 9606.ENSP00000299626.

Protein family/group databases

CAZyi GT57. Glycosyltransferase Family 57.

PTM databases

PhosphoSitei Q9BVK2.

Polymorphism databases

DMDMi 143811361.

Proteomic databases

MaxQBi Q9BVK2.
PaxDbi Q9BVK2.
PRIDEi Q9BVK2.

Protocols and materials databases

DNASUi 79053.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299626 ; ENSP00000299626 ; ENSG00000159063 . [Q9BVK2-1 ]
ENST00000376156 ; ENSP00000365326 ; ENSG00000159063 . [Q9BVK2-2 ]
ENST00000615266 ; ENSP00000480742 ; ENSG00000159063 . [Q9BVK2-2 ]
GeneIDi 79053.
KEGGi hsa:79053.
UCSCi uc001oyz.1. human.
uc001oza.1. human. [Q9BVK2-1 ]

Organism-specific databases

CTDi 79053.
GeneCardsi GC11M077811.
GeneReviewsi ALG8.
HGNCi HGNC:23161. ALG8.
HPAi HPA051898.
MIMi 608103. gene.
608104. phenotype.
neXtProti NX_Q9BVK2.
Orphaneti 79325. ALG8-CDG.
PharmGKBi PA134942124.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG277067.
GeneTreei ENSGT00550000074967.
HOGENOMi HOG000168174.
HOVERGENi HBG024332.
InParanoidi Q9BVK2.
KOi K03849.
OMAi ALTLCGY.
PhylomeDBi Q9BVK2.
TreeFami TF315002.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

Miscellaneous databases

GeneWikii ALG8.
GenomeRNAii 79053.
NextBioi 67803.
PROi Q9BVK2.
SOURCEi Search...

Gene expression databases

Bgeei Q9BVK2.
CleanExi HS_ALG8.
ExpressionAtlasi Q9BVK2. baseline and differential.
Genevestigatori Q9BVK2.

Family and domain databases

InterProi IPR004856. Glyco_trans_ALG6/ALG8.
[Graphical view ]
PANTHERi PTHR12413. PTHR12413. 1 hit.
Pfami PF03155. Alg6_Alg8. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of 16 novel human genes showing high similarity to yeast sequences."
    Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G.
    Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-222.
    Tissue: Melanocyte.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Skin.
  5. "A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation."
    Chantret I., Dancourt J., Dupre T., Delenda C., Bucher S., Vuillaumier-Barrot S., Ogier de Baulny H., Peletan C., Danos O., Seta N., Durand G., Oriol R., Codogno P., Moore S.E.H.
    J. Biol. Chem. 278:9962-9971(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CONGENITAL DISORDER OF GLYCOSYLATION TYPE I.
  6. "Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)."
    Schollen E., Frank C.G., Keldermans L., Reyntjens R., Grubenmann C.E., Clayton P.T., Winchester B.G., Smeitink J., Wevers R.A., Aebi M., Hennet T., Matthijs G.
    J. Med. Genet. 41:550-556(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CDG1H PRO-47 AND ASP-275, VARIANT SER-222.

Entry informationi

Entry nameiALG8_HUMAN
AccessioniPrimary (citable) accession number: Q9BVK2
Secondary accession number(s): A6NDW6, O60860
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: April 3, 2007
Last modified: October 29, 2014
This is version 127 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3